ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.2T>C (p.Met1Thr)

gnomAD frequency: 0.00001  dbSNP: rs1488660868
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578657 SCV000680756 pathogenic not provided 2024-10-17 criteria provided, single submitter clinical testing Initiation codon variant in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21910976)
Labcorp Genetics (formerly Invitae), Labcorp RCV000664735 SCV001578966 pathogenic Mucopolysaccharidosis, MPS-III-A 2024-11-06 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the SGSH mRNA. The next in-frame methionine is located at codon 88. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of the initiator codon has been observed in individuals with mucopolysaccharidosis type IIIA (PMID: 21204211, 21910976, 22976768). ClinVar contains an entry for this variant (Variation ID: 488839). This variant disrupts the p.Arg74 amino acid residue in SGSH. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9285796, 9401012, 11343308, 28844463). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000664735 SCV002045510 pathogenic Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000664735 SCV005652759 pathogenic Mucopolysaccharidosis, MPS-III-A 2024-03-25 criteria provided, single submitter clinical testing
Counsyl RCV000664735 SCV000788742 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2017-01-17 no assertion criteria provided clinical testing
Natera, Inc. RCV000664735 SCV001453826 pathogenic Mucopolysaccharidosis, MPS-III-A 2020-09-16 no assertion criteria provided clinical testing

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